20072019
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Publications 2007 2019

2019

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

Chang, H. R., Cho, S. Y., Lee, J. H., Lee, E., Seo, J., Lee, H. R., Cavalcanti, D. P., Mäkitie, O., Valta, H., Girisha, K. M., Lee, C., Neethukrishna, K., Bhavani, G. S., Shukla, A., Nampoothiri, S., Phadkei, S. R., Park, M. J., Ikegawa, S., Wang, Z., Higgs, M. R. & 15 othersStewart, G. S., Jung, E., Lee, M-S., Park, J. H., Lee, E. A., Kim, H., Myung, K., Jeon, W., Lee, K., Kim, D., Kim, O-H., Choi, M., Lee, H-W., Kim, Y. & Cho, T-J., 7 Mar 2019, In : American Journal of Human Genetics. 104, 3, p. 439-453 15 p.

Research output: Contribution to journalArticleScientificpeer-review

Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures”

Costantini, A., Valta, H., Baratang, N. V., Yap, P., Bertola, D. R., Yamamoto, G. L., Kim, C. A., Chen, J., Wierenga, K. J., Fanning, E. A., Escobar, L., McWalter, K., McLaughlin, H., Willaert, R., Begtrup, A., Alm, J. J., Reinhardt, D. P., Mäkitie, O. & Campeau, P. M., 2019, In : Bone. 121, p. 163-171 9 p.

Research output: Contribution to journalArticleScientificpeer-review

2018

A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia

Vakkilainen, S., Mäkitie, R., Klemetti, P., Valta, H., Taskinen, M., Husebye, E. S. & Mäkitie, O., 25 Oct 2018, In : Frontiers in Immunology. 9, 9 p., 2468.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Cinacalcet rectifies hypercalcemia in a patient with familial hypocalciuric hypercalcemia type 2 (FHH2) caused by a germline loss-of-function Gα11 mutation

Gorvin, C. M., Hannan, F. M., Cranston, T., Valta, H., Mäkitie, O., Schalin-Jäntti, C. & Thakker, R. V., Jan 2018, In : Journal of Bone and Mineral Research. 33, 1, p. 32-41 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Open Access
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Novel mutations in fibronectin associated with metaphyseal fractures - Expanding the phenotype of patients with a subtype of spondylomethaphyseal dysplasia with "corner fractures"

Alm, J. J., Costantini, A., Valta, H., Baratang, N. V., Yap, P., Bertola, D., Yamamoto, G., Kim, C. A., Chen, J., Wierenga, K. J., Fanning, E. A., Escobar, L., Mcwalter, K., Mclaughlin, H., Willaert, R., Begtrup, A., Reinhardt, D. P., Makitie, O. & Campeau, P. M., Nov 2018, In : Journal of Bone and Mineral Research. 33, p. 417-417 1 p.

Research output: Contribution to journalMeeting AbstractResearchpeer-review

Polyostotic Fibrous Dysplasia With and Without McCune-Albright Syndrome-Clinical Features in a Nordic Pediatric Cohort

Utriainen, P., Valta, H., Bjornsdottir, S., Mäkitie, O. & Horemuzova, E., 15 Mar 2018, In : Frontiers in Endocrinology. 9, 8 p., 96.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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2017

Abnormally High and Heterogeneous Bone Matrix Mineralization After Childhood Solid Organ Transplantation: A Complex Pathology of Low Bone Turnover and Local Defects in Mineralization

Fratzl-Zelman, N., Valta, H., Pereira, R. C., Misof, B. M., Roschger, P., Jalanko, H., Wesseling-Perry, K., Klaushofer, K. & Makitie, O., May 2017, In : Journal of Bone and Mineral Research. 32, 5, p. 1116-1125 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Bisphosphonate Treatment and the Characteristics of Femoral Fractures in Children With Osteogenesis Imperfecta

Vuorimies, I., Mayranpaa, M. K., Valta, H., Kroger, H., Toiviainen-Salo, S. & Makitie, O., 1 Apr 2017, In : Journal of Clinical Endocrinology and Metabolism. 102, 4, p. 1333-1339 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype

Klemetti, P., Valta, H., Kostjukovits, S., Taskinen, M., Toiviainen-Salo, S. & Makitie, O., Aug 2017, In : Clinical Genetics. 92, 2, p. 204-207 4 p.

Research output: Contribution to journalArticleScientificpeer-review

CRTAP variants in early-onset osteoporosis and recurrent fractures

Costantini, A., Vuorimies, I., Mäkitie, R., Mayranpaa, M. K., Becker, J., Pekkinen, M., Valta, H., Netzer, C., Kampe, A., Taylan, F., Jiao, H. & Makitie, O., Mar 2017, In : American Journal of Medical Genetics. Part A. 173, 3, p. 806-808 3 p.

Research output: Contribution to journalArticleScientific

Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia

Biggs, C. M., Kostjukovits, S., Dobbs, K., Laakso, S., Klemetti, P., Valta, H., Taskinen, M., Makitie, O. & Notarangelo, L. D., Aug 2017, In : Journal of Clinical Immunology. 37, 6, p. 508-510 3 p.

Research output: Contribution to journalArticleScientific

Open Access
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High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia

Kostjukovits, S., Klemetti, P., Föhr, A., Kajosaari, M., Valta, H., Taskinen, M., Toiviainen-Salo, S. & Mäkitie, O., Jan 2017, In : Journal of Allergy and Clinical Immunology. 139, 1, p. 375-378 4 p.

Research output: Contribution to journalArticleScientific

Open Access
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PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants

Kämpe, A. J., Costantini, A., Makitie, R. E., Jäntti, N., Valta, H., Mayranpaa, M., Kröger, H., Pekkinen, M., Taylan, F., Jiao, H. & Makitie, O., Oct 2017, In : Osteoporosis International. 28, 10, p. 3023-3032 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Timing of dental development in osteogenesis imperfecta patients with and without bisphosphonate treatment

Vuorimies, I., Arponen, H., Valta, H., Tiesalo, O., Ekholm, M., Ranta, H., Evalahti, M., Mäkitie, O. & Waltimo-Siren, J., 2017, In : Bone. 94, p. 29-33 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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2016

Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults

Makitie, R. E., Haanpaa, M., Valta, H., Pekkinen, M., Laine, C. M., Lehesjoki, A-E., Schalin-Jantti, C. & Makitie, O., Sep 2016, In : Journal of Bone and Mineral Research. 31, 9, p. 1734-1742 9 p.

Research output: Contribution to journalArticleScientificpeer-review

2015

Altered Osteocyte-Specific Protein Expression in Bone after Childhood Solid Organ Transplantation

Pereira, R. C., Valta, H., Tumber, N., Salusky, I. B., Jalanko, H., Makitie, O. & Perry, K. W., 21 Sep 2015, In : PLoS One. 10, 9, 12 p., 0138156.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Body composition and adipokines in patients with juvenile idiopathic arthritis and systemic glucocorticoids

Markula-Patjas, K., Valta, H., Pekkinen, M., Andersson, S., Aalto, K., Lahdenne, P., Viljakainen, H. & Makitie, O., 2015, In : Clinical and Experimental Rheumatology. 33, 6, p. 924-930 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Cinacalcet Treatment in an Adolescent With Concurrent 22q11.2 Deletion Syndrome and Familial Hypocalciuric Hypercalcemia Type 3 Caused by AP2S1 Mutation

Tenhola, S., Hendy, G. N., Valta, H., Canaff, L., Lee, B. S. P., Wong, B. Y. L., Valimaki, M. J., Cole, D. E. C. & Makitie, O., Jul 2015, In : Journal of Clinical Endocrinology and Metabolism. 100, 7, p. 2515-2518 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Cranial base pathology in pediatric osteogenesis imperfecta patients treated with bisphosphonates

Arponen, H., Vuorimies, I., Haukka, J., Valta, H., Waltimo-Siren, J. & Makitie, O., Mar 2015, In : Journal of neurosurgery. Pediatrics. 15, 3, p. 313-320 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland

Viljakainen, H., Andersson-Assarsson, J. C., Armenio, M., Pekkinen, M., Pettersson, M., Valta, H., Lipsanen-Nyman, M., Makitie, O. & Lindstrand, A., 1 Jul 2015, In : PLoS One. 10, 7, 13 p., 0131883.

Research output: Contribution to journalArticleScientificpeer-review

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2014

Compromised Peak Bone Mass in Patients with Inflammatory Bowel Disease-A Prospective Study

Laakso, S., Valta, H., Verkasalo, M., Toiviainen-Salo, S. & Makitie, O., Jun 2014, In : The Journal of Pediatrics. 164, 6, p. 1436-+ 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Different mutations in PDE4D associated with developmental disorders with mirror phenotypes

Lindstrand, A., Grigelioniene, G., Nilsson, D., Pettersson, M., Hofmeister, W., Anderlid, B-M., Kant, S. G., Ruivenkamp, C. A. L., Gustavsson, P., Valta, H., Geiberger, S., Topa, A., Lagerstedt-Robinson, K., Taylan, F., Wincent, J., Laurell, T., Pekkinen, M., Nordenskjold, M., Makitie, O. & Nordgren, A., Jan 2014, In : Journal of Medical Genetics. 51, 1, p. 45-54 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Pediatric solid organ transplantation and osteoporosis: a descriptive study on bone histomorphometric findings

Tamminen, I. S., Valta, H., Jalanko, H., Salminen, S., Mayranpaa, M. K., Isaksson, H., Kroger, H. & Makitie, O., Aug 2014, In : Pediatric Nephrology. 29, 8, p. 1431-1440 10 p.

Research output: Contribution to journalArticleScientificpeer-review

2012

Donor-specific HLA antibodies and graft function in children after renal transplantation

Miettinen, J. K., Peräsaari, J., Lauronen, J., Qvist, E., Valta, H., Pakarinen, M., Merenmies, J. M. & Jalanko, H., 2012, In : Pediatric Nephrology. 27, 6, p. 1011-1019 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Impaired Bone Health in Inflammatory Bowel Disease: A Case-Control Study in 80 Pediatric Patients

Laakso, S., Valta, H., Verkasalo, M., Toiviainen-Salo, S-M., Viljakainen, H. & Mäkitie, O., 2012, In : Calcified Tissue International. 91, 2, p. 121-130 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Prevalence of Vertebral Compression Fractures and Associated Factors in Children and Adolescents with Severe Juvenile Idiopathic Arthritis

Markula-Patjas, K. P., Valta, H. L., Kerttula, L. I., Soini, I. H., Honkanen, V. E. A., Toiviainen-Salo, S-M. & Mäkitie, O. M., 2012, In : Journal of Rheumatology. 39, 2, p. 365-373 9 p.

Research output: Contribution to journalArticleScientificpeer-review

The Thoracic and Lumbar Spine in Severe Juvenile Idiopathic Arthritis: Magnetic Resonance Imaging Analysis in 50 Children

Toiviainen-Salo, S., Markula-Patjas, K., Kerttula, L., Soini, I., Valta, H. & Mäkitie, O., 2012, In : The Journal of Pediatrics. 160, 1, p. 140-146 7 p.

Research output: Contribution to journalArticleScientificpeer-review

2011

Lasten osteoporoosin uudet diagnostiset kriteerit - selkärangan kompressiomurtumat alidiagnosoitu ongelma

Valta, H. & Mäkitie, O., 2011, In : Duodecim. 127, 9, p. 921-929 9 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

Pubertal development is normal in adolescents after renal transplantation in childhood

Tainio, J., Qvist, E., Vehmas, R., Jahnukainen, K., Hölttä, T., Valta, H., Jahnukainen, T. & Jalanko, H., 2011, In : Transplantation. 92, 4, p. 404-409 6 p.

Research output: Contribution to journalArticleScientificpeer-review

2007

Bone health and growth in glucocorticoid-treated patients with juvenile idiopathic arthritis

Valta, H., Lahdenne, P., Jalanko, H., Aalto, K. & Mäkitie, O., 2007, In : Journal of Rheumatology. 34, p. 831-836 6 p.

Research output: Contribution to journalArticleScientificpeer-review